Health and Fitness

Griscelli syndrome Overview Griscelli syndrome is a rare, autosomal recessive disorder that causes partial albinism and can lead to severe neurological or immunological problems. It is characterized by hypopigmentation, resulting in a silvery-gray sheen to the hair, and is caused by genetic mutations affecting melanosome transport. There are three types of the syndrome, distinguished by their specific genetic cause and whether they primarily involve neurological impairment (Type 1), severe immunodeficiency (Type 2), or only hypopigmentation (Type 3).   Symptoms Hypopigmentation : The most consistent feature is a silvery-gray sheen to the hair, and some individuals may have hypopigmented skin.  Large, clumped pigment in hair shafts : Microscopic examination of hair shafts shows large, irregular clumps of pigment instead of a uniform distribution.  Neurological impairment (Type 1): May include features like ataxia, seizures, and developmental delay.  Severe immun...

Gorlin goltz syndrome Overview Gorlin syndrome — also called basal cell nevus syndrome, nevoid basal cell carcinoma syndrome (NBCCS) and Gorlin-Goltz syndrome — is a rare genetic disorder that increases your risk of developing cancerous and benign (noncancerous) tumors. With this condition, a harmful change (mutation) in one of your genes makes you especially likely to develop basal cell carcinoma. This is the most common type of skin cancer. There’s no cure for Gorlin syndrome. But with careful monitoring to diagnose and treat cancer in the early stages, a person living with this condition can live as long as someone without it. Gorlin syndrome doesn’t have to impact your lifespan or your quality of life. Symptoms Signs of Gorlin syndrome vary. The most common ones include: Several basal cell carcinomas. Skin cancer usually appears in sun-exposed areas (like your face or neck). With nevoid basal cell carcinoma syndrome, it usually occurs during adolescence or early adulthood. Odontog...

Brain tuberculosis Overview Brain tuberculosis is a serious infection caused by Mycobacterium tuberculosis that can lead to meningitis or tuberculomas in the brain. Symptoms include severe headaches, nausea, vomiting, and altered mental status, with a higher risk for young children, older adults, and those with weakened immune systems. Treatment typically involves a long course of anti-TB drugs, sometimes with corticosteroids, and surgery may be required in some cases Symptoms General malaise, tiredness, or not feeling well Persistent headache Low-grade fever, often with night sweats Loss of appetite and unexplained weight loss Vague aches and pains  Severe and worsening headache Stiff neck (meningismus) Confusion, personality changes, or diminished mental status Nausea and vomiting Sensitivity to light (photophobia) Seizures Focal neurological deficits (e.g., weakness on one side of the body, difficulty speaking) Stroke-like symptoms Vision changes, such as visual impairment or bl...

Brain aneurysm Overview A brain aneurysm (AN-yoo-riz-um) is a bulge or ballooning in a blood vessel in the brain. It's also known as a cerebral aneurysm or intracranial aneurysm. One type of aneurysm called a berry or saccular aneurysm looks like a berry hanging on a stem. Experts think brain aneurysms form and grow because blood flowing through the blood vessel puts pressure on a weak area of the vessel wall. This can increase the size of the brain aneurysm. If the brain aneurysm leaks or ruptures, it causes bleeding in the brain, known as a hemorrhagic stroke. Most often, a ruptured brain aneurysm happens in the space between the brain and the thin tissues covering the brain. This type of hemorrhagic stroke is called a subarachnoid hemorrhage. Brain aneurysms are common. But most brain aneurysms aren't serious, especially if they're small. Most brain aneurysms don't rupture. They usually don't cause symptoms or cause health problems. In many people, brain aneurysm...

Gorham-Stout disease Overview Children with Gorham-Stout disease experience gradual bone loss (osteolysis) caused by an abnormal overgrowth of lymphatic vessels. These vessels are a normal part of the body’s lymphatic system, which transports a clear fluid containing white blood cells called lymph around the body to help clear toxins and waste. In patients with Gorham-Stout, these thin-walled lymphatic vessels expand (dilate) and multiply, leading to the rapid breakdown of bone (bone resorption). In children and young adults, bone resorption is a normal process of bone growth, in which new bone replaces old. For those with Gorham-Stout, the overgrown lymphatic vessels may change the balance of bone formation and loss, leading to loss of bone and presence of lymphatic vessels where bone used to be. Gorham-Stout disease is sometimes called vanishing bone disease or idiopathic or progressive massive osteolysis. Symptoms Gorham-Stout may affect multiple bones, but in most cases it is a reg...

Glutaric Aciduria Type I Overview Glutaric aciduria type I (GA1) is a rare hereditary metabolic disorder caused by a deficiency of the mitochondrial enzyme glutaryl-CoA dehydrogenase (GCDH). It is in the group of disorders known as cerebral organic acidemias. Individuals with this condition have deficiency or absence of GCDH enzyme that is involved in the lysine metabolism. GCDH deficiency results in increased concentrations of potentially neurotoxic metabolites, glutaric acid (GA), 3-hydroxy glutaric acid (3-OH-GA) and glutaconic acid within body tissues, especially within the brain, and also non-toxic glutarylcarnitine (C5DC). Two biochemical subtypes have been defined, high (HE) and low excretors (LE), depending on residual enzyme activity and the amount of GA in the urine. Newborns may show unspecific clinical signs like enlarged head circumference (macrocephaly) or decreased muscle tone (hypotonia). Without treatment, most affected children develop an acute encephalopathic crisis ...

Gerstmann-Sträussler-Scheinker Disease Overview Gerstmann-Sträussler-Scheinker (GSS) disease is a rare genetic degenerative brain disorder. A common symptom is a progressive loss of coordination that may present as unsteadiness of gait, difficulty walking and clumsiness. As the disease progresses, other symptoms become apparent including dementia, in which there are worsening problems with thought, cognition, memory, language and behavior. Some people may present with psychiatric symptoms such as depression, personality change, or emotional instability before motor symptoms appear. GSS disease is caused by changes (variants) in the prion protein (PRPN) gene. The PRNP gene encodes the human prion protein (PrPc). Variants in this gene lead to the production of abnormally shaped (misfolded) prion protein (PrPSc), also known simply as a “prion”, which is toxic to the body. In GSS disease, the abnormal prions build up primarily within the brain. This leads to the progressive loss of nerve c...